Variant position: 461 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 760 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SLAIKPVFERFQSVIITSGT LSPLDIYPKILDFHPVTMATF
Mouse SLAIKPVFERFQSVIITSGT LSPLDIYPKILDFHPVTMATF
Bovine SLAIKPVFERFQSVIITSGT LSPLDIYPKILDFHPVTMATF
Slime mold SIGMKPIFDKYRSVVITSGT LSPLDIYTKMLNFRPTVVERL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 760 General transcription and DNA repair factor IIH helicase subunit XPD
438 – 637 Mediates interaction with MMS19
430 – 760 Missing. In isoform 2.
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
Frederick G.D.; Amirkhan R.H.; Schultz R.A.; Friedberg E.C.;
Hum. Mol. Genet. 3:1783-1788(1994)
Cited for: VARIANT XP-D VAL-461;
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
Takayama K.; Danks D.M.; Salazar E.P.; Cleaver J.E.; Weber C.A.;
Hum. Mutat. 9:519-525(1997)
Cited for: VARIANTS TTD1 VAL-461; 716-VAL--ARG-730 DEL AND PRO-725;
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
Botta E.; Nardo T.; Broughton B.C.; Marinoni S.; Lehmann A.R.; Stefanini M.;
Am. J. Hum. Genet. 63:1036-1048(1998)
Cited for: VARIANTS TTD1 HIS-112; TYR-259; VAL-461; THR-482 DEL; GLY-673 AND TRP-722;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.